Canonical Allele Identifier: CA1432855134

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660496T= , CM000666.2:g.660496T=	GRCh38
NC_000004.11:g.654285T= , CM000666.1:g.654285T=	GRCh37
NC_000004.10:g.644285T=	NCBI36
NG_009839.1:g.39923T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1497T= MANE Select	ENSP00000420295.1:p.Phe499=
ENST00000255622.10:c.1497T=	ENSP00000255622.6:p.Phe499=
ENST00000429163.6:c.660T=	ENSP00000406334.2:p.Phe220=
ENST00000496514.5:c.1497T=	ENSP00000420295.1:p.Phe499=
NM_000283.3:c.1497T=	NP_000274.2:p.Phe499=
NM_001145291.1:c.1497T=	NP_001138763.1:p.Phe499=
NM_001145292.1:c.660T=	NP_001138764.1:p.Phe220=
XM_011513473.1:c.1716T=	XP_011511775.1:p.Phe572=
XM_011513474.1:c.1716T=	XP_011511776.1:p.Phe572=
XM_011513475.1:c.1497T=	XP_011511777.1:p.Phe499=
XM_011513476.1:c.1716T=	XP_011511778.1:p.Phe572=
XM_011513477.1:c.702T=	XP_011511779.1:p.Phe234=
XM_011513478.1:c.426T=	XP_011511780.1:p.Phe142=
NM_001350154.1:c.660T=	NP_001337083.1:p.Phe220=
NM_001350155.1:c.342T=	NP_001337084.1:p.Phe114=
XM_011513473.3:c.1716T=	XP_011511775.1:p.Phe572=
XM_011513474.3:c.1716T=	XP_011511776.1:p.Phe572=
XM_011513475.2:c.1497T=	XP_011511777.1:p.Phe499=
XM_011513476.3:c.1716T=	XP_011511778.1:p.Phe572=
XM_011513478.2:c.426T=	XP_011511780.1:p.Phe142=
XM_017008284.1:c.660T=	XP_016863773.1:p.Phe220=
XM_017008285.1:c.660T=	XP_016863774.1:p.Phe220=
XM_017008286.1:c.660T=	XP_016863775.1:p.Phe220=
NM_001350154.2:c.660T=	NP_001337083.1:p.Phe220=
NM_001350155.2:c.342T=	NP_001337084.1:p.Phe114=
NM_000283.4:c.1497T= MANE Select	NP_000274.3:p.Phe499=
NM_001145291.2:c.1497T=	NP_001138763.2:p.Phe499=
NM_001145292.2:c.660T=	NP_001138764.2:p.Phe220=
NM_001350154.3:c.660T=	NP_001337083.1:p.Phe220=
NM_001350155.3:c.342T=	NP_001337084.1:p.Phe114=
NM_001379246.1:c.660T=	NP_001366175.1:p.Phe220=
NM_001379247.1:c.660T=	NP_001366176.1:p.Phe220=